Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017755.6:c.538-1G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
611091.2.1 | Lebanon | Seizure; Intellectual disability; Axial hypotonia; Short stature; Failure to thrive; Microcephaly | Male | Yes | Yes | The novel mutation deletes the splice acceptor site of exon 6 leading to mRNA instability. Patient fibroblasts (from two of the affected siblings) were shown to lack NSUN2 protein. |
611091.2.3 | Lebanon | Intellectual disability; Axial hypotonia; Short stature; Failure to thrive; Microcephaly; Eczema | Female | Yes | Yes | |
611091.2.4 | Lebanon | Female | Mother of siblings 611091.2.1-611091.2.3 | |||
611091.2.5 | Lebanon | Male | Father of siblings 611091.2.1-611091.2.3 |